Disease #02075 (IGF1RES (insulin-like growth factor 1, resistance to), OMIM:270450)

Official abbreviation IGF1RES
Name insulin-like growth factor 1, resistance to
OMIM ID 270450
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant, Autosomal recessive
Individuals reported having this disease 9
Phenotype entries for this disease 9
Associated with 1 gene IGF1R
Associated tissues -
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Individuals

9 entries on 1 page. Showing entries 1 - 9.
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00079759 - PubMed: Abuzzahab 2003, PubMed: Raile 2006 older brother of 16569742.c2, son of 16569742.c3 M no (Germany) - - - - - IGF1RES insulin-like growth factor 1, resistance to; neurology normal; retardation of speech, primary microcephaly, bilateral clinodactyly; pectus excavatum; Broad nasal bridge,thin u.lip,long & smooth philtrum,broad l.lip,bushy eyebrows, receding hairline; Clinodactyly, pectus excavatum, short broad fingers, short distal phalanges IGF1R IGF1R 1 1 Patricia Willemse
00079760 - PubMed: Raile 2006 older brother of 14657428.p2, son of 16569742.c3; broad, round nasal tip, short broad fingers M no (Germany) - - - - - IGF1RES insulin-like growth factor 1, resistance to; Growth pattern same as older brother; Broad nasal bridge, long&smooth philtrum, thin upper lip, inverted fleshy lower lip; Short distal falanges, bilateral clinodactyly IGF1R IGF1R 1 1 Patricia Willemse
00079761 - {PMID16569742:Raile 2006} mother of 14657428.p2 and 16569742.c2 F - (Germany) - - - - - IGF1RES insulin-like growth factor 1, resistance to; Primary microcephaly IGF1R IGF1R 1 1 Patricia Willemse
00079764 - PubMed: Hwa 2005 affected mother (15928254.c2) diagnosed with IUGR and short stature F no Japan Japanese - - - - IGF1RES insulin-like growth factor 1, resistance to; Intelligence quotient; IUGR, at 2y noticed to have growth failure IGF1R IGF1R 1 1 Patricia Willemse
00079769 - PubMed: Fang 2009 - M no (United States) white - - - - IGF1RES 11.3y, GH therapy (0.7mg/kg/wk), height velocity 7.2cm/yr; 7.5m GH therapy Tanner II scrotal hair; IQ age-appropriate school level; affected mother and maternal half brother (15y, 166.4cm -0.5SDS) at 15y, sister of patient 9.5y, 123.2cm, -1.94 SDS;i nsulin-like growth factor 1, resistance to; neurology normal; Bifid Uvula, microcephalic IGF1R IGF1R 1 1 Patricia Willemse
00079772 - PubMed: Walenkamp 2006 mother of t16757531.p2 F no (Netherlands) - - - - - IGF1RES insulin-like growth factor 1, resistance to; Postnatally severe failure to thrive; no facial dysmorphism; 1975 (35y) Arginine stimulation test with maximal GH respons of 62mU/L; needed postnatally nasogastric tube feeding (first year of life), due to poor appetite; pregnancy complicated by Hyperemesis Gravidarum; IQ above average IGF1R IGF1R 1 1 Patricia Willemse
00079773 - PubMed: Walenkamp 2006 daugther of 16757531.p1, father Hindoestani descent F - (Netherlands) Hindoestani - - - - IGF1RES insulin-like growth factor 1, resistance to; Extremly poor appetite; Brachycephaly; Hypotelorism, triangular face, small mouth, thin lips, prominent ears; placental weight 290g, -2.4SDS; pregnancy complicated by Hyperemesis Gravidarum, Oligohydramnion; at 10m Percutaneous Gastrostoma positioned, failure to thrive persisted; psychomotor development showed 3m motor delay (Bayley test); 14m Arginine stimulation test IGF1R IGF1R 1 1 Patricia Willemse
00079781 - PubMed: Abuzzahab 2003 - F no (United States) - - - - - IGF1RES insulin-like growth factor 1, resistance to; Psychomotor agitation; nonverbal learning disorder, social phobias; acquisition of gross and fine motor skills mildly delayed; first tooth erupted at 14m; verbal IQ 134, performance IQ 89; rapid, pressured speech, anxious affect; obsessive tendencies, excessive fantasy role playing, social phobias; rate acquisition secudary sexual characteristics normal IGF1R IGF1R 2 1 Patricia Willemse
00079869 - PubMed: Wallborn 2010 - F - Germany - - - - - IGF1RES insulin-like growth factor 1, resistance to; developmental delay (Kaufmann Assessment for Children -2.0 SDS); no skeletal abnormalities; no facial dysmorphism; IGF1R IGF1R 1 2 Jürgen Klammt
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